Assessment of antioxidant enzymes, total sialic acid, lipid bound sialic acid, vitamins and selected amino acids in children with phenylketonuria

Ekin, Suat; Doğan, Murat; Gök, Fazilet; Karakus, Yağmur

doi:10.1038/s41390-018-0137-2

Cited by 8 publications

(18 citation statements)

References 31 publications

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“…In a recent study by Suat Ekin on PKU patients, with a mean age of 6.92 ± 0.61 years (n = 30), a tendency of low levels of serum Ala, Gly, and Orn was exposed in patients, although no statistical difference was observed between the PAH deficiency group and healthy group . In our study, the older HPA children showed significantly lower levels of Tyr, Ala, Gly, Orn, Thr, Asp, Glu, Met, Arg, and Gln than in the corresponding control group, all with statistical difference.…”

Section: Discussioncontrasting

confidence: 61%

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

Liang

Han

et al. 2019

Clinical Laboratory Analysis

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Background Hyperphenylalaninemia is the most common genetic metabolic disease. Early treatment prevents brain injury effectively. The present study aimed to detect the exact amino acid status of patients with hyperphenylalaninemia before treatment. Methods Data of 116 newborn patients from our Newborn Screening Center and 161 older patients from our clinic before treatment were collected. The content of 17 amino acids in their blood was determined by tandem mass spectrometry and compared with normal controls. Relationship between phenylalanine and other amino acids in patients was analyzed using the smoothing curve fitting and threshold effect analysis. Results Most amino acids in the blood of patients were within the normal range; however, they were different significantly from those of the normal children. Newborn patients showed higher phenylalanine (346.30 vs 45.90 µmol/L), valine (121.50 vs 110.30 µmol/L), citrulline, ornithine and lower tyrosine (52.97 vs 66.12 µmol/L), threonine (68.68 vs 78.21 µmol/L), glutamine levels than observed in normal newborns. Older patients showed significantly higher phenylalanine (844.00 vs 51.82 µmol/L), valine (117.60 vs 110.90 µmol/L), histidine, serine and lower tyrosine (55.97 vs 67.31 µmol/L), threonine (35.94 vs 51.89 µmol/L), alanine, asparagine, glutamic acid, methionine, arginine, glycine, ornithine, glutamine content than found in matched normal children. Tyrosine, valine, ornithine, and threonine in newborn patients and tyrosine, glycine, glutamine, and threonine in older patients had a nonlinear correlation with phenylalanine levels with obvious threshold effect and clear inflection points. Conclusion Significant difference was observed in the amino acid status between pretherapeutic hyperphenylalaninemia patients and normal children. Some amino acids showed notable threshold effect with phenylalanine level in a nonlinear pattern.

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Section: Discussioncontrasting

confidence: 61%

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

Liang

Han

et al. 2019

Clinical Laboratory Analysis

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“…No entanto, alguns pesquisadores obtiveram resultados de médias semelhantes entre grupos caso e controle. Nos resultados de Artuch et al 9 , Gassió et al 24 e Ekin et al 7 , a diferença das médias entre caso e controle não demonstraram relevância, divergindo com o estudo de Bakel et al 8 , onde a redução foi de aproximadamente 50% e Reilly et al 18 , com diminuição de 37% em fenilcetonúricos (Figura 4).…”

Section: Demonstraram Resultados Semelhantes (Figura 2)unclassified

“…Estudos demonstraram deficiência na capacidade antioxidante, relacionando com a carência nutricional3,4, no entanto, divergências de resultados ocorreram referentes aos perfis de CoQ106, selênio 7,8 e glutationa peroxidase (GPx) 8,9 , surgindo a necessidade de responder através de um levantamento bibliográfico, se a carência nutricional realmente interfere de modo a comprometer a capacidade antioxidante.…”

Section: Introductionunclassified

Fenilcetonúria: Dieta Restritiva E Carência Nutricional

Gonçalves

Alcantara

Júnior

et al. 2020

RBMC

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A fenilcetonúria é uma doença autossômica recessiva e indivíduos portadores de tal doença apresentam carência nutricional devido a dieta restritiva. O trabalho teve por objetivo, apontar as principais carências nutricionais em portadores de fenilcetonúria aderentes a dieta restritiva e verificar se há relação com o estresse oxidativo. Trata-se de revisão da literatura de aspecto descritivo, onde por meio dos descritores foram a priori selecionadas referências, que, após a leitura resultou em 27 utilizadas neste trabalho. Foram extraídos dados de 11 artigos referentes às seguintes comparações séricas entre fenilcetonúricos e indivíduos sadios: selênio, L-carnitina, coenzima Q10 e glutationa peroxidase (GPx). Dados de artigos referentes ao selênio, demonstraram diminuição em fenilcetonúricos, da mesma forma com L-carnitina e GPx, os quais em todos estudos houve redução sérica. Apenas a coenzima Q10 demonstrou uma divergência, com maior média em fenilcetonúricos aderentes a dieta. A exclusão de alimentos ricos em fenilalanina tem como consequência a carência nutricional, reduzindo a capacidade antioxidante, evidenciando a importância da adição destes nutrientes nas fórmulas alimentares de fenilcetonúricos ou a suplementação como tratamento coadjuvante à dieta restritiva.

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“…Ekin et al [ 24 ] documented lower phylloquinone concentrations in their 30 PKU patients compared to 30 healthy peers. However, the authors did not assess the dietary and formula intake of vitamin K. It is also important to underline that their assessment comprised the measurement of vitamin K1 exclusively.…”

Section: Discussionmentioning

confidence: 99%

Vitamin K Status in Adherent and Non-Adherent Patients with Phenylketonuria: A Cross-Sectional Study

et al. 2020

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This is the first study to evaluate vitamin K status in relation to dietary intake and phenylalanine dietary compliance in patients with phenylketonuria (PKU). The dietary and PKU formula intake of vitamin K was calculated in 34 PKU patients, with vitamin K status determined by the measurement of prothrombin induced by vitamin K absence (PIVKA-II). Blood phenylalanine concentrations in the preceding 12 months were considered. There were significantly more phenylalanine results exceeding 6 mg/dL in patients with normal PIVKA-II concentrations than in those with abnormal PIVKA-II levels (p = 0.035). Similarly, a higher total intake of vitamin K and dietary vitamin intake expressed as μg/day (p = 0.033 for both) and %RDA (p = 0.0002 and p = 0.003, respectively) was observed in patients with normal PIVKA-II levels. Abnormal PIVKA-II concentrations were associated with a lower OR (0.1607; 95%CI: 0.0273–0.9445, p = 0.043) of having a median phenylalanine concentration higher than 6 mg/dL. In conclusion, vitamin K deficiency is not uncommon in phenylketonuria and may also occur in patients with adequate vitamin K intake. PKU patients with better dietary compliance have a higher risk of vitamin K deficiency. The present findings highlight the need for further studies to re-evaluate dietary recommendations regarding vitamin K intake, both concerning formula-based and dietary consumption of natural products.

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Assessment of antioxidant enzymes, total sialic acid, lipid bound sialic acid, vitamins and selected amino acids in children with phenylketonuria

Abstract: It was concluded that the levels of α-aminoadipic acid and phylloquinone might be an appropriate choice for the determination of phenylketonuria in parallel with the levels of phenylalanine. α-aminobutyric acid and phylloquinone as a supplement can decrease HPA damage.

Cited by 8 publications

References 31 publications

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

Fenilcetonúria: Dieta Restritiva E Carência Nutricional

Vitamin K Status in Adherent and Non-Adherent Patients with Phenylketonuria: A Cross-Sectional Study

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